Zobrazeno 1 - 10
of 68
pro vyhledávání: '"Libin Mei"'
Preimplantation genetic testing for Cockayne syndrome with a novel ERCC6 variant in a Chinese family
Autor:
Xuemei He, Yiyuan Zhang, Xianjing Huang, Pingping Qiu, Hong Ji, Lu Ding, Yingying Shi, Yanru Huang, Ping Li, Libin Mei
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
BackgroundCockayne syndrome (CS) is a rare, multisystem, autosomal recessive disorder characterized by cachectic dwarfism, nervous system abnormalities, and premature aging. Mutations in the ERCC6 and ERCC8 genes are the predominant causes of Cockayn
Externí odkaz:
https://doaj.org/article/4d2cb92a263946cb860876c7d86778ca
Publikováno v:
Journal of International Medical Research, Vol 52 (2024)
Objective This study aimed to compare the pregnancy outcomes of Day 2 (D2) fresh embryo transfer and D3 fresh embryo transfer in women with only one zygote with two pronuclei (2PN). Methods Data on 432 in vitro fertilization-embryo transfer cycles wi
Externí odkaz:
https://doaj.org/article/134fc465c1824b8bbc7de0466b7e8cf6
Autor:
Libin Mei, Yanru Huang, Xiaoling Wu, Huang He, Ronghui Ye, Jinxiu Ma, XueMei He, Yuhua Shi, Ping Li
Publikováno v:
Frontiers in Medicine, Vol 9 (2022)
Externí odkaz:
https://doaj.org/article/38e28ae9e1564a8fbab5f35b53259c02
Autor:
Libin Mei, Yanru Huang, Xiaoling Wu, Huang He, Ronghui Ye, Jinxiu Ma, XueMei He, Yuhua Shi, Ping Li
Publikováno v:
Frontiers in Medicine, Vol 8 (2021)
Objective: Premature ovarian insufficiency (POI) is one of the most common reproductive endocrinological causes of infertility in women of child-bearing age. The purpose of this study was to identify FIGLA gene mutations in Chinese patients with POI
Externí odkaz:
https://doaj.org/article/891b8c951b69412ca4d483c723e75bf6
Autor:
Yanru Huang, Libin Mei, Yangdan Wang, Huiming Ye, Xiaomin Ma, Jian Zhang, Meijiao Cai, Ping Li, Yunsheng Ge, Yulin Zhou
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
ObjectiveGlobal developmental delay has markedly high phenotypic and genetic heterogeneity, and is a great challenge for clinical diagnosis. Hypotonia, ataxia, and delayed development syndrome (HADDS), first reported in 2017, is one type of global de
Externí odkaz:
https://doaj.org/article/0077f7668c884639a5f4153518a43d81
Autor:
Yanwei Sha, Liangkai Zheng, Zhiyong Ji, Libin Mei, Lu Ding, Shaobin Lin, Xu Wang, Xiaoyu Yang, Ping Li
Publikováno v:
BMC Medical Genetics, Vol 19, Iss 1, Pp 1-7 (2018)
Abstract Background Testis-expressed gene 11 (TEX11) is an X-linked gene and essential for meiotic recombination and chromosomal synapsis. TEX11 deficiency causes meiotic arrest and male infertility, and many TEX11 mutations have been found in azoosp
Externí odkaz:
https://doaj.org/article/9232604fd0a24c88b6242700e4c4062a
Autor:
Yanwei Sha, Wensheng Liu, Xianjing Huang, Yang Li, Zhiyong Ji, Libin Mei, Shaobin Lin, Shuangbo Kong, Jinhua Lu, Lingyuan Kong, Xingshen Zhu, Zhongxian Lu, Lu Ding
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 7, Iss 8, Pp n/a-n/a (2019)
Abstract Background Asthenozoospermia (AZS), also known as asthenospermia, is characterized by reduced motility of ejaculated spermatozoa and is detected in more than 40% of infertile patients. Because the proportion of progressive spermatozoa in sev
Externí odkaz:
https://doaj.org/article/a164ac7377024dd392954c218e481de9
Autor:
Libin Mei, Zhi-Yong Ji, Lingyuan Kong, Yanwei Sha, Yi Zhang, Lu Ding, Shaobin Lin, Zhi-Ying Su, Xiaoli Wei, Xianjing Huang
Publikováno v:
Annals of Human Genetics. 84:271-279
BACKGROUND Multiple morphological abnormalities of the sperm flagella (MMAF) is one kind of severe asthenozoospermia, which is caused by dysplastic development of sperm flagella. In our study, we sought to investigate the novel gene mutations leading
Autor:
Libin Mei, Lingling Huang, Yanru Huang, Xiaoling Wu, Huang He, Xuemei He, Zhiying Su, Ping Li
Publikováno v:
Molecular Medicine Reports. 25
Publikováno v:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 38(12)
To analyze the clinical features and molecular genetic etiology of a patient with 3-M (Miller McKusick Malvaux) syndrome from a consanguineous parentage family, and to explore the relationship between genotype and phenotype.After the consent of the p